Genetic Test Reveals Unexpected Data

You're listening to SCIENCE FRIDAY. I'm Ira Flatow. Hospitals and clinics are already using DNA sequencing to diagnose rare childhood diseases and develop treatments targeting specific cancers. So we may soon have technology that maps a person's entire genome in 24 hours or less and costing as low as $1,000. You can now have that done, and it's a bargain.

But as with all bargains, beware that you may get more than you bargained for. What if you find out that you have genes linked to rare conditions or fatal diseases? My next guest had his own genome sequenced, and that's when his story took an unexpected turn.

John Lauerman is a reporter-at-large with Bloomberg News. He joins us from Boston. Welcome to SCIENCE FRIDAY.

JOHN LAUERMAN: Hello, Ira, how are you today?

FLATOW: Fine, how are you?

LAUERMAN: Very well, thanks.

FLATOW: What made you decide to have your whole genome sequenced?

LAUERMAN: Well, so some of the factors that you talked about, the price is certainly dropping. You talked about the $1,000 genome, and of course there's an excellent book out there by Kevin Davies called "The $1,000 Genome" that raises a lot of questions about the ethics and I guess you'd say the emotional impact of having your genome sequenced.

And we're already looking at technologies like this - that one announced by Oxford Nanopore just the other day, and they're predicting that they're going to be able to sequence a genome in as quickly as 15 minutes.

FLATOW: Wow.

LAUERMAN: They haven't announced the cost yet, but you know, we're looking at this technology that's poised to enter the clinic. You mentioned two applications in the clinic, and - but manufacturers, the people who make these sequencers, and many researchers are saying, you know, we should really sequence everybody.

And there have been some studies out there suggesting that, for example, there was a study MITRE Corp that suggested that everybody in the military ought to have their genome sequenced. So I thought to myself, well, if this is going to be something that everybody is going to have done very soon, you know, then maybe I should give it a try.

FLATOW: And so you went in, you gave a vial of blood, and they came back with your sequence. And you opened the envelope and...

LAUERMAN: Yeah, so yeah, it was kind of surprising. There were a number of results. I began - I got a file with a number of gene variants, and this variant file was filtered out to contain the variants that were most likely to be associated with diseases and mainly with rare diseases.

And I looked through it, and for example I saw that I have a gene that raises my risk for macular degeneration, which is an eye disease, an age-related eye disease. And that wasn't really a surprise because that's a disease that affects a lot of people. And there was also a small increased risk of schizophrenia. Schizophrenia is actually a fairly - you know, not such an uncommon disease, and the increased risk was relatively small.

But then I looked at this report, and I realized that at the very top of the report there was - there was a report on a gene variation called JAK2V617F. And the JAK2 gene is associated with a number of rare blood disorders. Most of those blood disorders are relatively mild. They are elevations in red blood cells and platelets, and those can lead to clotting disorders or things like itching.

And they're fairly easy to treat. The clotting, the elevated risk of clotting could be treated with aspirin or other drugs, and having elevated red blood cells can also be treated with drugs or even just draining a little bit of blood from your system occasionally.

But there's also some fairly serious blood disorders, including leukemia and also including a disease called primary myelofibrosis, and that's actually a fairly severe condition.

FLATOW: So the longer you look, the more things you found.

LAUERMAN: That's right. Well, it actually didn't take me too long to find it. I found all this within minutes, really, of looking at my report. And I don't know if you mentioned this, but I had my genome sequenced through a project at Harvard called the Personal Genome Project.

So I had great support. A few days later, I went into the Personal Genome Project and met with a team of researchers there. They talked about all these findings, and we talked about the JAK2 gene in great detail. And they explained to me, you know, exactly what I've told you, that it's linked to several disorders, some of them mild, some of them severe.

And we had it confirmed. Of course, first of all we had to confirm that - because you can't really - when you're looking at the genome, there's a great risk of error. So they confirmed this with another technology and found that it was, in fact, a correct finding.

So now I'm looking at - I guess, as I said in the story, I'm sort of on the frontier now. We don't really know what it means when people have this gene, and they are not sick, and I'm not sick. There's absolutely nothing wrong with me.

I went to my doctor, had my height and weight looked at, et cetera. You know, I - there's - I don't have any symptoms of these disorders. So it's not even clear that I'm at increased risk, although there are studies that would certainly suggest that.

FLATOW: There are studies that show you might be at increased risk for cancer.

LAUERMAN: Well, they suggest it. I don't know if you would say that they show it, yeah.

FLATOW: But the take-home here is that - be prepared.

LAUERMAN: Absolutely. Yeah, absolutely be prepared.

FLATOW: Be prepared for what you're going to get back. And does advanced counseling help, to have that?

LAUERMAN: Well, I certainly, you know, got advanced counseling because I was in a research project, and again, there was nothing wrong with me. I just wanted to be part of this research project and wanted to write about it and simultaneously maybe, you know, contribute a little bit of information about genomics and genetics.

I met with a genetics counselor before I had my genome sequenced, and we went through my family history, and we talked about a bunch of diseases that we thought we might find signs of in my genome, and those included a condition called benign essential tremor, which my dad has, and some of my aunts and uncles have had.

And I was fairly sure that the gene - there's a well-known dominant gene associated with that condition. I was sure we would find that in my genome, and of course we didn't.

(SOUNDBITE OF LAUGHTER)

LAUERMAN: And instead we found these other things. We found that and I think we also found - a little bit later we found out that I have one copy of the ApoE4 gene that increases risk of Alzheimer's disease. So that was a little bit of a surprise too.

FLATOW: What this is all saying to me is that this brings back what I heard when I heard about the $1,000 genome machine, is that it may cost you $1,000 to learn what your sequence is, but it could cost you 50 or 100 thousand to have someone tell you what it all means.

LAUERMAN: That's right, yeah. I'm certainly lucky. I mean, I've - you know, this is such an uncharted territory. I kept thinking of it as kind of like my own personal moon landing. I mean, I don't jump out of helicopters. I don't, you know, do crazy things, swimming with sharks or anything like this. But I knew this was a risk.

I mean, I knew that it might occur that I might find something like this, and so I was surrounded with a lot of expertise, and I think that's really important, you know, for anybody who's having their genome sequenced, to think long and hard about, you know, what do they want to find out about themselves and how are they going to react.

In the story which I think you read, you know, I talked a lot about my reactions, you know, the anxiety that I felt from time to time, but I think that's, you know, that's natural. That's natural when you're trying something new, trying something different, something that - I think I'm just the 16th person who's been sequenced by the PGP at Harvard.

And it's not unusual to have - you know, to be confronted with new things that, you know, nobody ever, in the history of the PGP, has been found to have the JAK2 gene before.

FLATOW: 1-800-989-8255 is our number, if you'd like to talk with John Lauerman, who is a reporter-at-large with Bloomberg News and wrote a story about having his own genome sequenced and coming up with a few surprises about what he found.

And yet you write in this story that you're not sorry you did it and that people should definitely go ahead and have this done.

LAUERMAN: Well, I'm certainly not sorry I did it. I mean I feel as though I learned something valuable about myself. I learned that I have a risk, certainly, of a very rare disorder. It might be serious. It might be quite mild. But I can look out for this. I can - you know, as they say with - you know, we all bear risks for diseases. You know, certainly all males out there, you know, we bear risk for prostate cancer.

And, you know, we're advised to constantly be on the lookout for it. And certainly not everybody needs to be on the lookout for risk of JAK2-related disorders for these (unintelligible) disorders. But it sounds like, at least from the data out there, that I do.

And if I had not had my genome sequenced, I never would have had any inkling of this. Now, you could say well, you might never develop the disorder, and you might just worry for nothing. Well, I'm kind of a worrier. I worry about a lot of things. I don't know what you're like, but I certainly, you know, I worry about my children.

I'm a tennis player. Sometimes when I close my eyes, I'm thinking about my forehand and, you know, how I can hit it better. I worry about that, worry about my job, my wife, my kids, et cetera. You've got to worry about something.

TESSA: Hi. I think you answered my original question, which was a comparison of your genome report to the known illnesses or conditions in your family, in your family history.

LAUERMAN: Mm-hmm.

TESSA: And now you're - you just mentioned that you have children. And I'm wondering, have your spouse had this procedure done, and is there anything that you're concerned about for your descendants? And then my - and then another question would be, in having this done, did you agree to, you know, have your data made available for research? And then is somebody going to, you know...

FLATOW: Yeah. Good question.

LAUERMAN: That's an excellent question.

TESSA: (Unintelligible)

FLATOW: Thanks, Tessa.

LAUERMAN: Yeah. So excellent question, and I probably should've mentioned this earlier. So the JAK2V617F variation that I have is widely considered to be what they call an acquired or somatic mutation, so there's a good chance that none of my relatives, including my children, have it. It's very unlikely that I would have passed it along to them. So this mutation relates only to me. And as to how I got it, you know, who knows? I'm a former smoker. I drink a lot of coffee. You know, I don't know what kind of chemicals I might have been exposed to along the way in my life. But - or I may be predisposed genetically to mutations like this. That's also a possibility. So there may be a genetic mutation, another genetic mutation that, say, predisposes you to, you know, makes you vulnerable to mutations like JAK2.

But we really don't know that, and that's another reason why we need to take such a hard look at the genome and figure these questions out and what makes people vulnerable, thanks to the things like JAK2V617F. And as far as - yeah, the data - this is all public data. You can go on that PGP website. You can take a look at my report, what's available in terms of the report on my genome. You can look at my medical records if you want to. I think you'd find them pretty boring. And you can find out whatever you want to about my genome just by looking there. And that's one of the goals of this study, the PGP, is to distribute information about genomes, about health more widely, and that's why I joined it.

FLATOW: Talking with John Lauerman, reporter-at-large with Bloomberg News on SCIENCE FRIDAY from NPR. I'm Ira Flatow. Let's go to the phones. We got a tweet first. We have tweet from Jake Lynford(ph) , who said: I had a gene SNP taken as recommended by my nutrition coach - help me lose weight, knowing how my body works. Highly recommend. So if you know that you have a gene that - maybe there's a gene that controls weight, the size of your body or your weight gain or your propensity to get fatter or retain weight, would that show up there too, do you think?

LAUERMAN: You know, I guess it probably - OK. So that - my genome would give all those results in terms of SNPs. We didn't really look so closely at conditions like weight that are probably multigenic, probably controlled by a lot of genes, as well as, you know, issues like environment. And I just - I'm not familiar with that SNP, but there's a ton of data there. I mean, there's all sorts of things that you could find out. You can find out whether you're predisposed to - there are certain genes like JAK2 that can predispose you to other rare diseases, certain rare cancers. There are genes that can predispose you to, as I mentioned, Alzheimer's disease, if you're interested in that kind of thing. So...

FLATOW: John, let me interrupt - because you brought up – I only have a couple of minutes left, but this is a very interesting point you brought up. And then you use the word predisposed. If you change jobs - or now - or if you're a freelancer and you're looking to get health insurance, are they going to say, hey, I have your genome now and I see you have that JAK2 gene and you're predisposed, blah, blah, blah, we're not going to insure you?

LAUERMAN: You know, that's an interesting question. And, of course, you know about the GINA law that prohibits discrimination based on genetic information in terms of giving out health insurance. But it doesn't protect everybody all the time. And as you said, if I went freelance it might be a different story. I don't know whether an insurer would, you know, take the trouble to, say, to look at my JAK2 status. And I don't know what would happen exactly if I challenged them using the GINA law. So there's about - been about 250 complaints under GINA law against - that's the Genetic Information Nondiscrimination Act that was signed by President George Bush in 2008. So there's been about 250 complaints filed under that law, and none of them have gone to court yet. So we don't - at least none that I know of, and so we don't really know how the law has been implemented so far in the courts. And also - but I would say it's certainly a very good jumping-off point, and it does, you know, provide some protection.

FLATOW: And in the closing minute that we have, for anyone contemplating this, one thing you would recommend is that they get some counseling beforehand.

LAUERMAN: Well, certainly beforehand and afterwards...

FLATOW: And after. And after. And since you're part of a study, you didn't have to pay for that. But this is - they're going to have to pay for it if they're looking for it, right?

LAUERMAN: You know, I haven't, you know, used the services that are out there right now. Illumina will sequence a genome, and I honestly don't know whether they - what kind of counseling they provide. But there are genetic counselors all over the place, and I highly recommend that you talk to somebody and get a sense of what your family history is, because really what you're doing when you get your genome sequenced, I think, is illuminating that family history and finding out what may be the possible causes or the possible effects of the conditions that have affected your relatives and your ancestors.

FLATOW: Well, John, thank you for taking time to be with us today.

LAUERMAN: Thank you very much.

FLATOW: John Lauerman is a reporter-at-large with Bloomberg News. And you can read more about his experience with gene mapping by visiting our website at sciencefriday.com. We have a link right to his story right there on the Internet and learn more about what he did. Transcript provided by NPR, Copyright NPR.